Development of a genomics module within an epilepsy‐specific electronic health record: Toward genomic medicine in epilepsy care

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Norman Delanty Maire White Katherine Benson Mark McCormack Sinead Heavin Elizabeth Comerford Nisha Gangadharan Kevin Power Brendan Dunleavey Hany El‐Naggar Colin Doherty Marie Greally Gianpiero Cavalleri Mary Fitzsimons


Both clinical genomics and e‐Health technology are changing the way medicine is being practiced. Although the basic clinical methodology of good medical care will remain unchanged, the combined power of genomics and electronic health records has the capability of enhancing, and in some cases transforming, the practice of medicine. This is particularly true in the care of patients with complex long‐term medical conditions such as chronic refractory epilepsy, especially in those with related complex comorbidities including intellectual disability and psychiatric disease.


Herein we outline the development and integration of an epilepsy genomics module into a preexisting epilepsy electronic patient record (EPR) system.


We describe how this EPR infrastructure is used to facilitate discussion at multidisciplinary clinical meetings around molecular diagnosis and resulting changes in management.


This work illustrates the role of eHealth technology in embedding genomics into the clinical pathway.


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